ICNC2018 Abstracts & Symposia Proposals, ICNC 2014

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Cognitive profile, neuropsychological disorders and concerns in patients with neurofibromatosis Type 1
Esteban Vaucheret, Maria Celeste Puga, Maria José García Basalo, Mariana Leist, Florencia Baliarda, Christy Ann Ekonen, Magdalena Reichart, Agustina López Ballent, Mariela Corleto, Victoria Madariaga, Guillermo Agosta

Building: Bourbon Cataratas Convention Centre, Foz do Iguaçu
Room: Iguazu I
Date: 2014-05-06 02:15 PM – 02:30 PM
Last modified: 2014-02-09

Abstract


Introduction: Patients with Neurofibromatosis type 1 (NF1) often show learning disabilities and cognitive difficulties, causing concerns in parents.

Objective: To describe the cognitive and neuropsychological profile and parent´s concerns in patients with NF1.

Methods and materials: Descriptive cross sectional study of patients with NF1.  Patients underwent a neuropsychological evaluation to determine cognitive profiles.

Results: We included 40 patients (60% male) with a mean age of 9.75 years (SD ± 3.8). The average Full scale Intelligence Quotient (IQ) was 88.53 (SD ± 11.18).  40% of patients showed a significant discrepancy between verbal and performance IQ.

Parent´s most common concerns were: attentional problems (50%), learning problems (30%) and motor skills (10%) nevertheless 25% did not report any difficulties. Evaluations showed: coordination disorders (50%), Attention Deficit Hyperactivity Disorder (ADHD) 32.5%,Non-Verbal Learning Disorder (NVLD) 27.5%, expressive language disorders (50%),  borderline IQ (5%), intellectual disability (2.5%).  60% fulfilled more than one of the previous diagnosis,80% presented at least one diagnosis.

Conclusion: We observed a higher prevalence of ADHD, NVLD, language and fine motor disorders. Results indicated that most patients had more than one neurocognitive disorder. Parents detected fewer difficulties than formal tests did. We emphasize therefore the importance of formal testing in order to start early and appropriate treatment.


Keywords


neurofibromatosis; cognitive profile, ADHD; NVLD; intellectual disability; expresive language disorder

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